ClinVar Miner

List of variants studied for autosomal recessive sideroblastic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00139
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00030
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_017875.4(SLC25A38):c.*548G>A rs531997173
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-273G>A rs184769974
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395

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